Metabolomics is a rapidly evolving field that aims to measure all small molecules (metabolites) in biological samples. Metabolites represent an intermediate biological process that bridges gene function, environmental impact, and health/disease endpoints (Suhre, K. & Gieger, C. Genetic variation in metabolic phenotypes: study designs and applications. Nat Rev Genet 13, 759-769 (2012)). Metabolic phenotypes in conjugation with genomics can generate novel insights into gene function, disease pathology, and biomarkers for disease diagnosis and prognosis (Suhre, K. et al. Human metabolic individuality in biomedical and pharmaceutical research. Nature 477, 54-60 (2011); Milburn, M. V. & Lawton, K. A. Application of metabolomics to diagnosis of insulin resistance. Annu Rev Med 64, 291-305 (2013)).
Since the early part of the century metabolomics has found its place in scientific research and discovery. The approach has been widely and successfully used to identify biomarkers for various indications. However, metabolomics has not been widely used for diagnosing disease in an individual patient.
Currently, clinical diagnostic tests measure at most 100 biochemical compounds from a single class of compound (e.g., urine organic acids) and typically only a single biochemical, which necessitates performing many diagnostic tests. The tests are typically run in sequence, and require a significant amount of sample (e.g., at least 0.5 mL per test), and in some cases, may require invasive methods to obtain said sample (e.g., tissue biopsy).